Canonical Allele Identifier: CA2175492151

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425350A= , CM000677.2:g.48425350A=	GRCh38
NC_000015.9:g.48717547A= , CM000677.1:g.48717547A=	GRCh37
NC_000015.8:g.46504839A=	NCBI36
NG_008805.2:g.225439T= , LRG_778:g.225439T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*261+19T=	ENSP00000453958.2:n.*261+19T=
ENST00000674301.2:c.*966+19T=	ENSP00000501333.2:n.*966+19T=
ENST00000682170.1:n.1634+19T=
ENST00000682767.1:n.750+19T=
ENST00000316623.10:c.7453+19T= MANE Select	ENSP00000325527.5:n.7453+19T=
ENST00000674301.1:c.2619+19T=	ENSP00000501333.1:n.2619+19T=
ENST00000316623.9:c.7453+19T=	ENSP00000325527.5:n.7453+19T=
ENST00000559133.5:c.2822+19T=
NM_000138.4:c.7453+19T= , LRG_778t1:c.7453+19T=	NP_000129.3:n.7453+19T=
NM_000138.5:c.7453+19T= MANE Select	NP_000129.3:n.7453+19T=